GDB linked to Human Gene Mutations!

Amy Voltz avoltz at
Tue Oct 22 13:35:46 EST 1996

In order to better represent the biology of human genetic disease, 
GDB now contains links to entries in the Human Gene Mutation Database 
(HGMD, Cardiff). 

The HGMD contains "known (published) gene lesions responsible for human 
inherited disease"(Cooper & Krawczak,1993, Human Gene Muation).

There are currently 551 GDB gene entries with a link to the corresponding 
mutation entry in HGMD. This number will continue to increase as the 
content of HGMD grows. 

To access these links:
Search by "Gene Name or Symbol" (e.g. PAX6) and choose "Other Links" 
under "Links to external databases".

Choose "External Links - Human Gene Mutation Database: gene symbol" on 
any gene entry.

Much thanks to Iain Fenton (HGMD) for working with us to provide the 
links and David Cooper and Michael Krawczak for providing this excellent 

Amy K. Voltz, Ph.D.
Research Fellow
Johns Hopkins University, Sch. of Medicine
Division of Biomedical Information Sciences
avoltz at       (410) 614-0440

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